[Ceritinib in the treatment of an adult patient with advanced neuroblastoma positive to the somatic activating mutation of ALK F1174L]

Recenti Prog Med. 2020 Dec;111(12):58e-62e. doi: 10.1701/3509.34978.
[Article in Italian]

Abstract

The ALK gene (anaplastic lymphoma kinase) encodes a highly conserved tyrosine kinase receptor whose physiological function has not yet been fully established; in particular the fusion of ALK (mainly EML4-ALK) is the gene alteration that most frequently involves 3-7% of all non-small cell lung cancers. Neuroblastoma in adults (NB) is a rare tumor that can present somatic activating mutations in the ALK gene in 8-9% of patients (and up to 14% of high-risk NBs); these mutations occur in the tyrosine kinase domain in three key positions (F1174, F1245 and R1275), which account for approximately 85% of all ALK mutations in NB. In this article, we report the case of an adult patient with advanced mutation-positive NB treated with an ALK inhibitor ceritinib showing a therapeutic opportunity due to the molecular diagnostic techniques now available.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Humans
  • Lung Neoplasms* / drug therapy
  • Lung Neoplasms* / genetics
  • Mutation
  • Neuroblastoma* / drug therapy
  • Neuroblastoma* / genetics
  • Neuroblastoma* / pathology
  • Protein Kinase Inhibitors / pharmacology
  • Protein Kinase Inhibitors / therapeutic use
  • Pyrimidines
  • Receptor Protein-Tyrosine Kinases / genetics
  • Receptor Protein-Tyrosine Kinases / therapeutic use
  • Sulfones

Substances

  • Protein Kinase Inhibitors
  • Pyrimidines
  • Sulfones
  • Receptor Protein-Tyrosine Kinases
  • ceritinib